Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background
Identifieur interne : 007E01 ( Main/Exploration ); précédent : 007E00; suivant : 007E02Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background
Auteurs : C. Krausz [Italie] ; C. Giachini [Italie] ; Y. Xue [Royaume-Uni] ; M K O Ryan [Australie] ; J. Gromoll [Allemagne] ; E Rajpert-De Meyts [Danemark] ; R. Oliva [Espagne] ; I. Aknin-Seifer [France] ; E. Erdei [Hongrie] ; N. Jorgensen [Danemark] ; M. Simoni [Allemagne, Italie] ; J L Ballescà [Espagne] ; R. Levy [France] ; G. Balercia [Italie] ; P. Piomboni [Italie] ; E. Nieschlag [Allemagne] ; G. Forti [Italie] ; R. Mclachlan [Australie] ; C. Tyler-Smith [Royaume-Uni]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2009-01.
English descriptors
- KwdEn :
- Abnormal, Abnormal sperm count, Amplification, Andrology unit, Azfc, Azfc region, Azoospermia, Cdy1, Cdy1 amplification, Cdy1 copies, Cdy1a, Cdy1b, Cdy1b deletion, Chromosome, Clinical physiopathology, Dazl, Deletion, Deletion carriers, Deletion subtypes, Different rearrangements, Different subtypes, Dupl, Duplication, False deletions, Gene, Gene copies, Gene dosage, Genet, Haplogroup, Haplogroups, High frequency, Infertile, Infertility, Inversion polymorphism, Krausz, Male infertility, Molecular characterisation, Motility, Multiple duplication, Multiple duplications, Normal range, Normal sperm concentration, Normal sperm count, Normospermic, Normospermic group, Partial deletions, Phenotype, Phenotypic, Phenotypic expression, Polymorphism, Primer, Rearrangement, Reference sequence, Reprod, Rflp analysis, Risk factor, Semen, Semen parameters, Semen phenotype, Significant differences, Sperm, Sperm concentration, Sperm concentrations, Sperm count, Sperm parameters, Sperm production, Spermatogenesis, Spermatogenic, Spermatogenic failure, Study population, Subtype, Subtypes, Supplementary table.
- Teeft :
- Abnormal, Abnormal sperm count, Amplification, Andrology unit, Azfc, Azfc region, Azoospermia, Cdy1, Cdy1 amplification, Cdy1 copies, Cdy1a, Cdy1b, Cdy1b deletion, Chromosome, Clinical physiopathology, Dazl, Deletion, Deletion carriers, Deletion subtypes, Different rearrangements, Different subtypes, Dupl, Duplication, False deletions, Gene, Gene copies, Gene dosage, Genet, Haplogroup, Haplogroups, High frequency, Infertile, Infertility, Inversion polymorphism, Krausz, Male infertility, Molecular characterisation, Motility, Multiple duplication, Multiple duplications, Normal range, Normal sperm concentration, Normal sperm count, Normospermic, Normospermic group, Partial deletions, Phenotype, Phenotypic, Phenotypic expression, Polymorphism, Primer, Rearrangement, Reference sequence, Reprod, Rflp analysis, Risk factor, Semen, Semen parameters, Semen phenotype, Significant differences, Sperm, Sperm concentration, Sperm concentrations, Sperm count, Sperm parameters, Sperm production, Spermatogenesis, Spermatogenic, Spermatogenic failure, Study population, Subtype, Subtypes, Supplementary table.
Abstract
Background: Previous studies have compared sperm phenotypes between men with partial deletions within the AZFc region of the Y chromosome and non-carriers, with variable results. In this study, a separate question was investigated, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. This study set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range. Results: In total, 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia were studied. The DAZ and CDY1 copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup were characterised. Although the study had good power to detect factors that accounted for ⩾5.5% of the variation in sperm concentration, no such factor was found. A negative effect of gr/gr deletions followed by b2/b4 duplication was found within the normospermic group, which remains to be further explored in a larger study population. Finally, significant geographical differences in the frequency of different subtypes of gr/gr deletions were found, which may have relevance for the interpretation of case control studies dealing with admixed populations. Conclusions: The phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.
Url:
- https://api.istex.fr/document/ADC76CB2BE00247D9E500B18F769BE9B326D69F1/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698292
DOI: 10.1136/jmg.2008.059915
Affiliations:
- Allemagne, Australie, Danemark, Espagne, France, Hongrie, Italie, Royaume-Uni
- Auvergne-Rhône-Alpes, Catalogne, District de Münster, Hongrie centrale, Hovedstaden, Rhénanie-du-Nord-Westphalie, Rhône-Alpes
- Barcelone, Budapest, Copenhague, Münster, Saint-Étienne
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<term>Abnormal sperm count</term>
<term>Amplification</term>
<term>Andrology unit</term>
<term>Azfc</term>
<term>Azfc region</term>
<term>Azoospermia</term>
<term>Cdy1</term>
<term>Cdy1 amplification</term>
<term>Cdy1 copies</term>
<term>Cdy1a</term>
<term>Cdy1b</term>
<term>Cdy1b deletion</term>
<term>Chromosome</term>
<term>Clinical physiopathology</term>
<term>Dazl</term>
<term>Deletion</term>
<term>Deletion carriers</term>
<term>Deletion subtypes</term>
<term>Different rearrangements</term>
<term>Different subtypes</term>
<term>Dupl</term>
<term>Duplication</term>
<term>False deletions</term>
<term>Gene</term>
<term>Gene copies</term>
<term>Gene dosage</term>
<term>Genet</term>
<term>Haplogroup</term>
<term>Haplogroups</term>
<term>High frequency</term>
<term>Infertile</term>
<term>Infertility</term>
<term>Inversion polymorphism</term>
<term>Krausz</term>
<term>Male infertility</term>
<term>Molecular characterisation</term>
<term>Motility</term>
<term>Multiple duplication</term>
<term>Multiple duplications</term>
<term>Normal range</term>
<term>Normal sperm concentration</term>
<term>Normal sperm count</term>
<term>Normospermic</term>
<term>Normospermic group</term>
<term>Partial deletions</term>
<term>Phenotype</term>
<term>Phenotypic</term>
<term>Phenotypic expression</term>
<term>Polymorphism</term>
<term>Primer</term>
<term>Rearrangement</term>
<term>Reference sequence</term>
<term>Reprod</term>
<term>Rflp analysis</term>
<term>Risk factor</term>
<term>Semen</term>
<term>Semen parameters</term>
<term>Semen phenotype</term>
<term>Significant differences</term>
<term>Sperm</term>
<term>Sperm concentration</term>
<term>Sperm concentrations</term>
<term>Sperm count</term>
<term>Sperm parameters</term>
<term>Sperm production</term>
<term>Spermatogenesis</term>
<term>Spermatogenic</term>
<term>Spermatogenic failure</term>
<term>Study population</term>
<term>Subtype</term>
<term>Subtypes</term>
<term>Supplementary table</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Abnormal</term>
<term>Abnormal sperm count</term>
<term>Amplification</term>
<term>Andrology unit</term>
<term>Azfc</term>
<term>Azfc region</term>
<term>Azoospermia</term>
<term>Cdy1</term>
<term>Cdy1 amplification</term>
<term>Cdy1 copies</term>
<term>Cdy1a</term>
<term>Cdy1b</term>
<term>Cdy1b deletion</term>
<term>Chromosome</term>
<term>Clinical physiopathology</term>
<term>Dazl</term>
<term>Deletion</term>
<term>Deletion carriers</term>
<term>Deletion subtypes</term>
<term>Different rearrangements</term>
<term>Different subtypes</term>
<term>Dupl</term>
<term>Duplication</term>
<term>False deletions</term>
<term>Gene</term>
<term>Gene copies</term>
<term>Gene dosage</term>
<term>Genet</term>
<term>Haplogroup</term>
<term>Haplogroups</term>
<term>High frequency</term>
<term>Infertile</term>
<term>Infertility</term>
<term>Inversion polymorphism</term>
<term>Krausz</term>
<term>Male infertility</term>
<term>Molecular characterisation</term>
<term>Motility</term>
<term>Multiple duplication</term>
<term>Multiple duplications</term>
<term>Normal range</term>
<term>Normal sperm concentration</term>
<term>Normal sperm count</term>
<term>Normospermic</term>
<term>Normospermic group</term>
<term>Partial deletions</term>
<term>Phenotype</term>
<term>Phenotypic</term>
<term>Phenotypic expression</term>
<term>Polymorphism</term>
<term>Primer</term>
<term>Rearrangement</term>
<term>Reference sequence</term>
<term>Reprod</term>
<term>Rflp analysis</term>
<term>Risk factor</term>
<term>Semen</term>
<term>Semen parameters</term>
<term>Semen phenotype</term>
<term>Significant differences</term>
<term>Sperm</term>
<term>Sperm concentration</term>
<term>Sperm concentrations</term>
<term>Sperm count</term>
<term>Sperm parameters</term>
<term>Sperm production</term>
<term>Spermatogenesis</term>
<term>Spermatogenic</term>
<term>Spermatogenic failure</term>
<term>Study population</term>
<term>Subtype</term>
<term>Subtypes</term>
<term>Supplementary table</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract">Background: Previous studies have compared sperm phenotypes between men with partial deletions within the AZFc region of the Y chromosome and non-carriers, with variable results. In this study, a separate question was investigated, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. This study set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range. Results: In total, 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia were studied. The DAZ and CDY1 copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup were characterised. Although the study had good power to detect factors that accounted for ⩾5.5% of the variation in sperm concentration, no such factor was found. A negative effect of gr/gr deletions followed by b2/b4 duplication was found within the normospermic group, which remains to be further explored in a larger study population. Finally, significant geographical differences in the frequency of different subtypes of gr/gr deletions were found, which may have relevance for the interpretation of case control studies dealing with admixed populations. Conclusions: The phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Danemark</li>
<li>Espagne</li>
<li>France</li>
<li>Hongrie</li>
<li>Italie</li>
<li>Royaume-Uni</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Catalogne</li>
<li>District de Münster</li>
<li>Hongrie centrale</li>
<li>Hovedstaden</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Rhône-Alpes</li>
</region>
<settlement><li>Barcelone</li>
<li>Budapest</li>
<li>Copenhague</li>
<li>Münster</li>
<li>Saint-Étienne</li>
</settlement>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Krausz, C" sort="Krausz, C" uniqKey="Krausz C" first="C" last="Krausz">C. Krausz</name>
</noRegion>
<name sortKey="Balercia, G" sort="Balercia, G" uniqKey="Balercia G" first="G" last="Balercia">G. Balercia</name>
<name sortKey="Forti, G" sort="Forti, G" uniqKey="Forti G" first="G" last="Forti">G. Forti</name>
<name sortKey="Giachini, C" sort="Giachini, C" uniqKey="Giachini C" first="C" last="Giachini">C. Giachini</name>
<name sortKey="Piomboni, P" sort="Piomboni, P" uniqKey="Piomboni P" first="P" last="Piomboni">P. Piomboni</name>
<name sortKey="Simoni, M" sort="Simoni, M" uniqKey="Simoni M" first="M" last="Simoni">M. Simoni</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Xue, Y" sort="Xue, Y" uniqKey="Xue Y" first="Y" last="Xue">Y. Xue</name>
</noRegion>
<name sortKey="Tyler Smith, C" sort="Tyler Smith, C" uniqKey="Tyler Smith C" first="C" last="Tyler-Smith">C. Tyler-Smith</name>
</country>
<country name="Australie"><noRegion><name sortKey="O Ryan, M K" sort="O Ryan, M K" uniqKey="O Ryan M" first="M K" last="O Ryan">M K O Ryan</name>
</noRegion>
<name sortKey="Mclachlan, R" sort="Mclachlan, R" uniqKey="Mclachlan R" first="R" last="Mclachlan">R. Mclachlan</name>
<name sortKey="Mclachlan, R" sort="Mclachlan, R" uniqKey="Mclachlan R" first="R" last="Mclachlan">R. Mclachlan</name>
</country>
<country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Gromoll, J" sort="Gromoll, J" uniqKey="Gromoll J" first="J" last="Gromoll">J. Gromoll</name>
</region>
<name sortKey="Nieschlag, E" sort="Nieschlag, E" uniqKey="Nieschlag E" first="E" last="Nieschlag">E. Nieschlag</name>
<name sortKey="Simoni, M" sort="Simoni, M" uniqKey="Simoni M" first="M" last="Simoni">M. Simoni</name>
</country>
<country name="Danemark"><region name="Hovedstaden"><name sortKey="Meyts, E Rajpert De" sort="Meyts, E Rajpert De" uniqKey="Meyts E" first="E Rajpert-De" last="Meyts">E Rajpert-De Meyts</name>
</region>
<name sortKey="Jorgensen, N" sort="Jorgensen, N" uniqKey="Jorgensen N" first="N" last="Jorgensen">N. Jorgensen</name>
</country>
<country name="Espagne"><region name="Catalogne"><name sortKey="Oliva, R" sort="Oliva, R" uniqKey="Oliva R" first="R" last="Oliva">R. Oliva</name>
</region>
<name sortKey="Ballesca, J L" sort="Ballesca, J L" uniqKey="Ballesca J" first="J L" last="Ballescà">J L Ballescà</name>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Aknin Seifer, I" sort="Aknin Seifer, I" uniqKey="Aknin Seifer I" first="I" last="Aknin-Seifer">I. Aknin-Seifer</name>
</region>
<name sortKey="Levy, R" sort="Levy, R" uniqKey="Levy R" first="R" last="Levy">R. Levy</name>
</country>
<country name="Hongrie"><region name="Hongrie centrale"><name sortKey="Erdei, E" sort="Erdei, E" uniqKey="Erdei E" first="E" last="Erdei">E. Erdei</name>
</region>
</country>
</tree>
</affiliations>
</record>
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